ONCE UPON A GENE - EPISODE 038 - Rare Like Us with Taylor Kane
ANNOUNCEMENTS
Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent panel on the 19th talking about stress reduction and caregiver well being. Register here.
Head over to podcastawards.com and nominate Once Upon a Gene for The People's Choice Award under the Society-Culture category.
Disorder: The Rare Disease Film Festival was supposed to be held in May and was cancelled due to COVID. These films are important in connecting families and researchers across the world. Bo Bigelow and Daniel DeFabio, the founders of the film festival, launched The Disorder Channel. It's available for free on Roku and Amazon Fire.
I discovered the passionate and driven Taylor Kane through the book she wrote called Rare Like Us, a memoir about her loving father dying from a rare disorder called Adrenoleukodystrophy (ALD). It's an incredible story and captures the insurmountable obstacles families in the rare disease community face. She is also the founder of Remember The Girls, an international nonprofit organization that unites, educates and empowers female carriers of x-linked genetic disorders. She's recently been nominated for an award in the category of patient leader hero. You can endorse her nomination here.
EPISODE HIGHLIGHTS
When did you decide to write Rare Like Us?
I always had in the back of my mind that I would write a book and tell my story. I finally started my freshman year of college, very slowly. I did a lot of research, went through a lot of documents and had a lot of conversations with my mom which helped me to capture the time that he was sick. I was only three years old when he was diagnosed and he passed away when I was 5 years old, so I didn't have a clear memory of everything that happened in that time. I remember my dad being sick and when he passed away, but I didn't know all the details and all the ways my mom suffered throughout that time. The book took about three and a half years to write from start to finish and it was published in August 2019.
Can you tell us about your dad's diagnosis?
My dad started having small behavioral changes. He was very neat, talkative, outgoing and never missed a beat. My mom started noticing things like his desk getting messy, they were arguing more, and he was getting more forgetful. They started going to marriage counseling and the counselor suggested that he get an MRI of his brain because of the random behavioral changes. He got an MRI and within a few days was diagnosed with Adrenoleukodystrophy (ALD). There's no treatment or cure and he only had a few years left. It was all very sudden and out of nowhere. Looking back, he did have some of the physical symptoms such as walking difficulties.
What does it mean to be a carrier of ALD?
ALD is an x-linked recessive disease which means it's carried on the x chromosome. Since my dad had it, I'm 100% a carrier of the disease because men give their only x chromosome to their daughters. I have a 50% chance of passing the disease down to any children I have in the future. Female children would be carriers and male children would get the disease. There's also a high chance that I'll eventually develop physical symptoms of ALD. Over 90% of carriers eventually develop symptoms. As of now, I don't think I have related symptoms, but that does increase as I get older. There was an assumption that since women have two x chromosomes, the healthy one would make up for the deficiencies of the one with the mutation. We know now that's not true and the same goes for all x-linked disease. Women have experienced symptoms as long as the disease has existed, but we're only just now getting into carrier related advocacy. In 2017, I formed my own nonprofit foundation called Remember The Girls, which is dedicated to carriers of x-linked disorders. It is one-of-a-kind and the only group that has ever brought x-lined carriers of different diseases together. We face a lot of the same issues with our symptoms being misunderstood and the difficulties that comes with having kids and alternative reproduction. We have about 30 or so x-linked diseases represented in our group, some more rare than others, and we have over 600 members from every continent in the world.
A big part of your organization is creating community and having strength in numbers. What are some other goals you have for the organization?
Breaking the carrier stigma is an overarching mission. So many of us have been told that because we're just carriers, we don't have anything to worry about and it's frustrating. Right now we're focused on developing a provider network and developing a family planning toolkit. The provider network will be a searchable database of carrier-friendly doctors, clinicians and mental health professionals recommended by the women in our group. The family planning toolkit will provide carriers with the options and resources available for having a family.
What are you most proud of with Remember The Girls?
The organization is the only one like it that exists. We have a strong board of directors, a medical advisory board with three doctors and three genetic counselors and I think the organization is strong despite being new. I'm most proud of the awareness the organization has raised. As the leader of the organization and as an advocate, my own biggest accomplishment is when i get a message from someone who felt alone until they found the group. I get those messages and the world stops for a minute when I realize I've created something that people need and find comfort in.
What can people do to help your cause?
Support Remember The Girls on social media. People can make donations to us to support our projects and help our organization grow. And spread the word about us to someone you know who is a carrier.
LINKS AND RESOURCES MENTIONED
NORD Living Rare, Living Stronger 2020 Registration
Disorder: The Rare Disease Film Festival
Remember The Girls PayPal Giving Fund
CONNECT WITH TAYLOR KANE
TUNE INTO THE ONCE UPON A GENE PODCAST
CONNECT WITH EFFIE PARKS